USP17L2
gene geneOn this page
Also known as DUB3
Summary
USP17L2 (ubiquitin specific peptidase 17 like family member 2, HGNC:34434) is a protein-coding gene on chromosome 8p23.1, encoding Ubiquitin carboxyl-terminal hydrolase 17 (Q6R6M4). Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes.
Enables cysteine-type deubiquitinase activity. Involved in several processes, including CAAX-box protein processing; protein deubiquitination; and regulation of defense response. Located in endoplasmic reticulum membrane and nucleus.
Source: NCBI Gene 377630 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 1 total
- Druggable target: yes
- MANE Select transcript:
NM_201402
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:34434 |
| Approved symbol | USP17L2 |
| Name | ubiquitin specific peptidase 17 like family member 2 |
| Location | 8p23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DUB3 |
| Ensembl gene | ENSG00000223443 |
| Ensembl biotype | protein_coding |
| OMIM | 610186 |
| Entrez | 377630 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000333796
RefSeq mRNA: 1 — MANE Select: NM_201402
NM_201402
CCDS: CCDS43713
Canonical transcript exons
ENST00000333796 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002199524 | 12136435 | 12138849 |
Expression profiles
Bgee: expression breadth broad, 42 present calls, max score 84.66.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0228 / max 5.2550, expressed in 12 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91904 | 0.0228 | 12 |
Top tissues by expression
99 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.66 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.19 | gold quality |
| corpus callosum | UBERON:0002336 | 75.04 | gold quality |
| sural nerve | UBERON:0015488 | 62.93 | gold quality |
| calcaneal tendon | UBERON:0003701 | 54.92 | silver quality |
| primary visual cortex | UBERON:0002436 | 52.64 | gold quality |
| stromal cell of endometrium | CL:0002255 | 51.68 | silver quality |
| adrenal tissue | UBERON:0018303 | 50.46 | silver quality |
| superior frontal gyrus | UBERON:0002661 | 48.97 | gold quality |
| monocyte | CL:0000576 | 47.29 | silver quality |
| leukocyte | CL:0000738 | 47.17 | silver quality |
| colonic epithelium | UBERON:0000397 | 45.96 | gold quality |
| ventricular zone | UBERON:0003053 | 43.73 | gold quality |
| putamen | UBERON:0001874 | 43.54 | gold quality |
| bone marrow cell | CL:0002092 | 42.82 | gold quality |
| caudate nucleus | UBERON:0001873 | 42.81 | gold quality |
| right frontal lobe | UBERON:0002810 | 42.04 | gold quality |
| nucleus accumbens | UBERON:0001882 | 41.56 | gold quality |
| tonsil | UBERON:0002372 | 41.52 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 41.51 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 41.41 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 40.31 | gold quality |
| brain | UBERON:0000955 | 39.99 | gold quality |
| temporal lobe | UBERON:0001871 | 39.78 | gold quality |
| left ovary | UBERON:0002119 | 39.75 | silver quality |
| amygdala | UBERON:0001876 | 39.47 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 39.16 | silver quality |
| cerebral cortex | UBERON:0000956 | 39.01 | gold quality |
| Ammon’s horn | UBERON:0001954 | 38.54 | silver quality |
| hypothalamus | UBERON:0001898 | 38.05 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.17 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 18)
- human DUB-3, like the murine DUB family members, is transiently induced in response to cytokines and can, when constitutively expressed, block growth factor-dependent proliferation. (PMID:14699124)
- Identifies DUB3 as being one of 30 genes with the most variable copy numbers in three human genomes. (PMID:19718026)
- As a major regulator of Cdc25A, Dub3 is an example of a transforming ubiquitin hydrolase that subverts a key component of the cell cycle machinery, promoting oncogenic transformation. (PMID:20228808)
- Recently, much progress has been made in understanding the physiological functions of cytokine-inducible DUBs such as DUB-1, DUB-2, and DUB-3/USP17, in regulation of cell proliferation and apoptosis in lymphocytes. [review] (PMID:23773437)
- Dub3 counteracts H2AX E3 ligases RNF8 and RNF168. Moreover, Dub3 and H2AX interact and Dub3 deubiquitinates H2AX in vitro. (PMID:24704006)
- These data indicate that the Dub3 might be a valuable biomarker for the prediction of ovarian cancer prognosis and Dub3 inhibition might be a potential strategy for ovarian cancer treatment. (PMID:25776484)
- In cigarette smoke extract-exposed airway epithelial cells and macrophages, HDAC2 is excessively ubiquitinated and degraded in the proteasome attributed to low expression of USP17. (PMID:26617781)
- We provide evidence that DUB3 proteins regulate YAP/TAZ activity by controlling the stability of the E3 ligase ITCH, the LATS kinases and the AMOT family proteins. As a novel Hippo pathway regulator, DUB3 has the potential to act a tumor suppressor by limiting YAP activity. (PMID:28061504)
- Dub3 is identified as a bona fide Snail1 deubiquitinase, which interacts with and stabilizes Snail1. (PMID:28198361)
- these data identify DUB3 and USP7 as factors that regulate DNA replication by controlling Geminin protein stability, and suggest that USP7 may be involved in Geminin dysregulation during breast cancer progression. (PMID:28288134)
- DUB3 promotes BET inhibitor resistance and cancer progression by deubiquitinating BRD4. (PMID:30057199)
- further analysis revealed 2 hemizygous deletions in the grandmother that segregate in several of her affected offspring. The first deletion was found in the UGT2B28 locus, spanning 7 informative sequence variants across at least 14 kb. The second deletion, located in USP17L2, spans 3 informative variants across at least 2 kb. On the whole, the findings of the presents study implicate 2 additional genes in the pathogenesis (PMID:30628680)
- our results revealed the essential role of the MGMT-DUB3-MCL1 axis in the chemoresistance of ovarian cancer and identified that a combined treatment with HDACis and PaTrin-2 is an effective method for overcoming chemoresistance in ovarian cancer. (PMID:30718431)
- DUB3 deubiquitinates and stabilizes NRF2 in chemotherapy resistance of colorectal cancer. (PMID:30778200)
- DUB3 functions as a novel cyclin A regulator through maintaining cyclin A stability. (PMID:30935108)
- NXN suppresses metastasis of hepatocellular carcinoma by promoting degradation of Snail through binding to DUB3. (PMID:35927236)
- USP17L2-SIRT7 axis regulates DNA damage repair and chemoresistance in breast cancer cells. (PMID:36040642)
- Clinicopathological Significance of DUB3 Expression in Non-small Cell Lung Cancer and Relationship Between DUB3 Expression and LATS1 Expression. (PMID:37652526)
Cross-species orthologs
0 orthologs
Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP40 (ENSG00000085982), USP48 (ENSG00000090686), USP14 (ENSG00000101557), USP11 (ENSG00000102226), USP10 (ENSG00000103194), USP31 (ENSG00000103404), USP42 (ENSG00000106346), USP5 (ENSG00000111667), USP4 (ENSG00000114316), USP9Y (ENSG00000114374), USP34 (ENSG00000115464), USP35 (ENSG00000118369), USP45 (ENSG00000123552), USP22 (ENSG00000124422), USP9X (ENSG00000124486), USP6 (ENSG00000129204), USP29 (ENSG00000131864), USP26 (ENSG00000134588), USP30 (ENSG00000135093), USP15 (ENSG00000135655), USP37 (ENSG00000135913), USP44 (ENSG00000136014), USP20 (ENSG00000136878), USP8 (ENSG00000138592), USP3 (ENSG00000140455), USP21 (ENSG00000143258), USP43 (ENSG00000154914), USP25 (ENSG00000155313), USP16 (ENSG00000156256), USP24 (ENSG00000162402), USP1 (ENSG00000162607), USP49 (ENSG00000164663), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242)
Protein
Protein identifiers
Ubiquitin carboxyl-terminal hydrolase 17 — Q6R6M4 (reviewed: Q6R6M4)
Alternative names: Deubiquitinating enzyme 17-like protein 2, Deubiquitinating protein 3, Ubiquitin carboxyl-terminal hydrolase 17-like protein 2, Ubiquitin thioesterase 17-like protein 2, Ubiquitin-specific-processing protease 17-like protein 2
All UniProt accessions (1): Q6R6M4
UniProt curated annotations — full annotation on UniProt →
Function. Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes. Regulates cell proliferation by deubiquitinating and inhibiting RCE1 thereby controlling the small GTPases NRAS and HRAS localization and activation. In parallel, mediates deubiquitination of CDC25A, preventing CDC25A degradation by the proteasome during the G1/S and G2/M phases promoting cell-cycle progression. Also regulates cell proliferation and apoptosis through deubiquitination of SUDS3 a regulator of histone deacetylation. Through activation of the Rho family GTPases RAC1A, CDC42 and RHOA, regulates cell migration. Through the cleavage of ‘Lys-48’- and ‘Lys-63’-linked polyubiquitin chains of the cytoplasmic innate immune receptors RIGI and IFIH1 stimulates the cellular response to viral infection.
Subunit / interactions. Interacts with SUDS3; the interaction is direct.
Subcellular location. Nucleus. Endoplasmic reticulum.
Tissue specificity. Broadly expressed.
Induction. Up-regulated by IL4/interleukin-4, IL6/interleukin-6 and chemokines including CXCL8 and CXCL12 (at protein level). Up-regulated during the G1/S transition of the cell cycle.
Miscellaneous. Overexpressed in a subset of human breast cancers, overexpression leading to an abnormally high level of CDC25A, which arrests cells through replication stress or premature mitosis, the latter occurring when CDK1 is activated inappropriately.
Similarity. Belongs to the peptidase C19 family. USP17 subfamily.
RefSeq proteins (1): NP_958804* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001394 | Peptidase_C19_UCH | Domain |
| IPR018200 | USP_CS | Conserved_site |
| IPR028889 | USP | Domain |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR050164 | Peptidase_C19 | Family |
Pfam: PF00443
UniProt features (26 total): sequence conflict 13, compositionally biased region 4, region of interest 3, active site 2, chain 1, domain 1, sequence variant 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6R6M4-F1 | 67.79 | 0.47 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 334 (proton acceptor); 89 (nucleophile)
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 89 | abolishes both enzymatic activity and effects on cell proliferation. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689880 | Ub-specific processing proteases |
| R-HSA-9648002 | RAS processing |
MSigDB gene sets: 138 (showing top):
GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_NEGATIVE_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_PROTEIN_TARGETING, GOBP_REGULATION_OF_GTPASE_ACTIVITY, GOBP_REGULATION_OF_RUFFLE_ASSEMBLY, GOBP_REGULATION_OF_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_REGULATION_OF_HYDROLASE_ACTIVITY, GOBP_REGULATION_OF_IMMUNE_RESPONSE
GO Biological Process (20): MAPK cascade (GO:0000165), apoptotic process (GO:0006915), negative regulation of protein processing (GO:0010955), protein deubiquitination (GO:0016579), regulation of cell migration (GO:0030334), regulation of protein stability (GO:0031647), negative regulation of GTPase activity (GO:0034260), regulation of cell population proliferation (GO:0042127), regulation of apoptotic process (GO:0042981), positive regulation of GTPase activity (GO:0043547), regulation of defense response to virus by host (GO:0050691), protein K63-linked deubiquitination (GO:0070536), protein K48-linked deubiquitination (GO:0071108), CAAX-box protein processing (GO:0071586), negative regulation of protein targeting to membrane (GO:0090315), regulation of G2/MI transition of meiotic cell cycle (GO:0110030), regulation of ruffle assembly (GO:1900027), positive regulation of MDA-5 signaling pathway (GO:1900245), positive regulation of RIG-I signaling pathway (GO:1900246), proteolysis (GO:0006508)
GO Molecular Function (5): cysteine-type deubiquitinase activity (GO:0004843), protein binding (GO:0005515), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787)
GO Cellular Component (4): nucleus (GO:0005634), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), endoplasmic reticulum (GO:0005783)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
| RAF/MAP kinase cascade | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein processing | 2 |
| GTPase activity | 2 |
| regulation of GTPase activity | 2 |
| protein deubiquitination | 2 |
| positive regulation of pattern recognition receptor signaling pathway | 2 |
| positive regulation of intracellular signal transduction | 2 |
| intracellular membrane-bounded organelle | 2 |
| cytoplasm | 2 |
| intracellular signaling cassette | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| negative regulation of proteolysis | 1 |
| regulation of protein processing | 1 |
| negative regulation of protein maturation | 1 |
| cysteine-type deubiquitinase activity | 1 |
| protein modification by small protein removal | 1 |
| cell migration | 1 |
| regulation of cell motility | 1 |
| regulation of biological quality | 1 |
| negative regulation of biological process | 1 |
| negative regulation of hydrolase activity | 1 |
| cell population proliferation | 1 |
| regulation of cellular process | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| positive regulation of hydrolase activity | 1 |
| regulation of defense response to virus | 1 |
| CAAX-box protein maturation | 1 |
| protein targeting to membrane | 1 |
| negative regulation of cellular process | 1 |
| regulation of protein targeting to membrane | 1 |
| negative regulation of establishment of protein localization | 1 |
| G2/MI transition of meiotic cell cycle | 1 |
| regulation of meiotic cell cycle phase transition | 1 |
| regulation of cell cycle G2/M phase transition | 1 |
| ruffle assembly | 1 |
| regulation of plasma membrane bounded cell projection assembly | 1 |
| positive regulation of immune effector process | 1 |
| MDA-5 signaling pathway | 1 |
Protein interactions and networks
STRING
528 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| USP17L2 | ZUP1 | Q96AP4 | 912 |
| USP17L2 | SNAI1 | O95863 | 623 |
| USP17L2 | USP13 | Q92995 | 604 |
| USP17L2 | USP37 | Q86T82 | 592 |
| USP17L2 | JOSD1 | Q15040 | 591 |
| USP17L2 | RCE1 | Q9Y256 | 560 |
| USP17L2 | FBXL14 | Q8N1E6 | 546 |
| USP17L2 | USP28 | Q96RU2 | 545 |
| USP17L2 | OTUD5 | Q96G74 | 533 |
| USP17L2 | CDK4 | P11802 | 533 |
| USP17L2 | JOSD2 | Q8TAC2 | 528 |
| USP17L2 | OTUB1 | Q96FW1 | 521 |
| USP17L2 | AMOT | Q4VCS5 | 520 |
| USP17L2 | USP26 | Q9BXU7 | 519 |
| USP17L2 | USP25 | Q9UHP3 | 515 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| USP17L24 | USP17L7 | psi-mi:“MI:0914”(association) | 0.350 |
| USP17L2 | USP17L7 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (130): LGMN (Biochemical Activity), USP17L2 (Co-fractionation), USP17L2 (Affinity Capture-Western), USP17L2 (Affinity Capture-Western), SUDS3 (Reconstituted Complex), SUDS3 (Affinity Capture-Western), SUDS3 (Affinity Capture-MS), USP17L2 (Affinity Capture-Western), HDAC2 (Affinity Capture-Western), USP17L2 (Affinity Capture-Western), IL33 (Affinity Capture-Western), USP17L2 (Affinity Capture-Western), SNAI1 (Affinity Capture-Western), SNAI1 (Reconstituted Complex), USP17L2 (Reconstituted Complex)
ESM2 similar proteins: A2A5N8, A6NCW0, A6NCW7, A8MUK1, B1AQJ2, B2RQC2, C9J2P7, C9JJH3, C9JLJ4, C9JPN9, C9JVI0, D3ZWK4, D6R901, D6R9N7, D6RA61, D6RBM5, D6RBQ6, D6RCP7, D6RJB6, E9Q9U0, G5E8G2, G5E8I7, O94966, P0C7H9, P0C7I0, P35125, P51784, Q0E2F9, Q0WX57, Q2TAC6, Q3UJD6, Q4KLL9, Q5R7G8, Q5TKR9, Q61068, Q66HE5, Q6J1Y9, Q6PFD6, Q6QN14, Q6R6M4
Diamond homologs: A0A0R4IB93, A0JM59, A5PMR2, A5PN09, A6NNY8, A6QNM7, A7Z056, B1AY13, B1WBD7, D2HBJ8, D6RBM5, E1C213, E7F6T8, E9Q9U0, F6Z5C0, F8VPU6, F8VPZ3, M9PD06, O00507, O22207, O60079, O74442, O94269, O94966, O96612, P0C7I0, P0C8Z3, P0CAQ1, P35125, P39538, P40453, P51784, P53874, P55824, P70398, Q01988, Q09738, Q0V9G5, Q28CN3, Q2HJE4
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| USP17L2 | “down-regulates quantity by destabilization” | LGMN | deubiquitination |
| USP17L2 | “up-regulates quantity by stabilization” | BHLHE40 | deubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
46 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:12137469:T:TA | donor_gain | 0.3800 |
| 8:12138645:T:TG | acceptor_gain | 0.3700 |
| 8:12137984:C:G | acceptor_gain | 0.3500 |
| 8:12137483:TTCC:T | donor_gain | 0.3000 |
| 8:12137543:T:A | donor_gain | 0.3000 |
| 8:12137386:GGGTA:G | donor_loss | 0.2900 |
| 8:12137387:GGTA:G | donor_loss | 0.2900 |
| 8:12137388:GTAC:G | donor_loss | 0.2900 |
| 8:12137389:TA:T | donor_loss | 0.2900 |
| 8:12137390:A:C | donor_loss | 0.2900 |
| 8:12137391:C:T | donor_loss | 0.2900 |
| 8:12137392:CTTCG:C | donor_loss | 0.2800 |
| 8:12137643:A:C | acceptor_gain | 0.2800 |
| 8:12138731:ACCTC:A | donor_gain | 0.2800 |
| 8:12138732:CCTCC:C | donor_gain | 0.2800 |
| 8:12137385:AGGGT:A | donor_loss | 0.2700 |
| 8:12137639:C:CC | acceptor_gain | 0.2700 |
| 8:12137375:G:C | donor_gain | 0.2600 |
| 8:12137643:A:AC | acceptor_gain | 0.2600 |
| 8:12138725:CCACT:C | donor_loss | 0.2600 |
| 8:12138726:CACTC:C | donor_loss | 0.2600 |
| 8:12138727:ACTCA:A | donor_loss | 0.2600 |
| 8:12138728:CT:C | donor_loss | 0.2600 |
| 8:12138729:T:TA | donor_loss | 0.2600 |
| 8:12138730:CACCT:C | donor_loss | 0.2600 |
| 8:12138731:AC:A | donor_loss | 0.2600 |
| 8:12138732:C:T | donor_loss | 0.2600 |
| 8:12138732:CCT:C | donor_gain | 0.2600 |
| 8:12137634:CTCTT:C | acceptor_gain | 0.2500 |
| 8:12138624:T:TG | acceptor_gain | 0.2400 |
AlphaMissense
3495 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:12137973:G:T | A263D | 0.988 |
| 8:12137966:C:A | K265N | 0.987 |
| 8:12137966:C:G | K265N | 0.987 |
| 8:12138142:A:G | C207R | 0.980 |
| 8:12137912:G:C | F283L | 0.979 |
| 8:12137912:G:T | F283L | 0.979 |
| 8:12137914:A:G | F283L | 0.979 |
| 8:12138154:A:G | S203P | 0.977 |
| 8:12138024:A:G | L246P | 0.970 |
| 8:12138147:A:G | I205T | 0.969 |
| 8:12138147:A:C | I205S | 0.967 |
| 8:12138141:C:G | C207S | 0.965 |
| 8:12138142:A:T | C207S | 0.965 |
| 8:12137968:T:C | K265E | 0.961 |
| 8:12138000:C:T | C254Y | 0.961 |
| 8:12138024:A:T | L246H | 0.961 |
| 8:12138121:A:G | S214P | 0.961 |
| 8:12138140:A:C | C207W | 0.961 |
| 8:12138133:A:G | C210R | 0.960 |
| 8:12138001:A:G | C254R | 0.958 |
| 8:12138131:G:C | C210W | 0.958 |
| 8:12138132:C:G | C210S | 0.958 |
| 8:12138133:A:T | C210S | 0.958 |
| 8:12138132:C:T | C210Y | 0.957 |
| 8:12138150:T:G | Q204P | 0.955 |
| 8:12138160:A:G | W201R | 0.955 |
| 8:12138160:A:T | W201R | 0.955 |
| 8:12138000:C:G | C254S | 0.954 |
| 8:12138001:A:T | C254S | 0.954 |
| 8:12137974:C:G | A263P | 0.953 |
dbSNP variants (sampled 300 via entrez): RS1008742680 (8:12140222 C>G,T), RS10090565 (8:12140019 G>A), RS10090570 (8:12140021 G>A), RS1012872703 (8:12139518 G>A), RS1017747908 (8:12136364 A>T), RS1022360289 (8:12138011 A>G), RS1030536033 (8:12136194 G>A), RS1031036734 (8:12138781 C>G), RS1031066170 (8:12140187 T>C), RS1035318720 (8:12138552 A>C,G), RS1038820269 (8:12137439 TGGG>T,TGG,TGGGG), RS1039095503 (8:12138452 G>C,T), RS1042709438 (8:12135947 T>C), RS1042853860 (8:12137345 C>G,T), RS1043714759 (8:12139659 A>G)
Disease associations
OMIM: gene MIM:610186 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3739248 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| abrine | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | decreases expression | 1 |
| Rifampin | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3744223 | Binding | Inhibition of USP17 in human HEK293T cells using fluorogenic substrate ub-rhodamine110 preincubated for 30 mins followed by substrate addition measured every 4 mins for 1 hr by microplate reader analysis | Development of a potent and selective cell penetrant Legumain inhibitor. — Bioorg Med Chem Lett |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.